DISEASES

Disease-gene associations mined from literature

Literature associating OGFOD1 and Oliver-McFarlane syndrome

OGFOD1 [ENSP00000457258]

Prolyl 3-hydroxylase OGFOD1; Prolyl 3-hydroxylase that catalyzes 3-hydroxylation of 'Pro- 62' of small ribosomal subunit uS12 (RPS23), thereby regulating protein translation termination efficiency. Involved in stress granule formation; Belongs to the TPA1 family.

Synonyms:  OGFOD1,  OGFOD1p,  hOGFOD1,  A0A0A0MTR2,  H3BP48 ...

Linkouts:  STRING  Pharos  UniProt  OMIM